Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556712 | SCV000656212 | likely benign | Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 | 2023-11-20 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001572262 | SCV001796870 | likely benign | not provided | 2021-05-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003952880 | SCV004767964 | likely benign | COL12A1-related condition | 2019-07-15 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |